Autosomal recessive ataxia due to PEX2 deficiency
Synonyms: Mild peroxisomal disorder due to PEX2 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare genetic, peroxisomal disease characterized by childhood or adolescence onset slowly progressing cerebellar ataxia and severe axonal sensorimotor polyneuropathy due to PEX 2 deficieny. Patients develop marked brain atrophy including cerebellum, cerebellar peduncles, and bulbar olives. Gait disturbance, moderate truncal ataxia, moderate cerebellar tremor, mild dysarthria, areflexia, strabismus, hypoacusia and nystagmus were also reported.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive ataxia due to PEX2 deficiency | Mild peroxisomal disorder due to PEX2 deficiency |
| fr | Ataxie autosomique récessive par déficit en PEX2 | Maladie peroxysomale modérée par déficit en PEX2 |
| de | Ataxie, autosomal-rezessive, PEX2-assoziierte | Milde peroxisomale Störung durch PEX2-Defizienz |
| es | Ataxia autosómica recesiva por deficiencia de PEX2 | Trastorno peroxisomal leve por deficiencia de PEX2 |
| it | Atassia autosomica recessiva da deficit di PEX2 | Malattia perossisomiale lieve da deficit di PEX2 |
| nl | Autosomaal recessieve ataxie door PEX2-deficiëntie | Milde peroxisomale stoornis door PEX2-deficiëntie |
| pt | Ataxia autossómica recessiva por deficiência PEX2 | Doença peroxissomal ligeira por deficiência PEX2 |
| pl | Autosomalna recesywna ataksja związana z niedoborem PEX2 | = en |
| cs | Autozomálně recesivní ataxie způsobená deficitem PEX2 | = en |
| uk | Аутосомно-рецесивна атаксія, зумовлена дефіцитом PEX2 | Легкий пероксисомний розлад через дефіцит PEX2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G11.1 | NTBT | attributed | validated |
| ICD-11 | 8A03.1Y | NTBT | attributed | validated |
| MONDO | 0957443 | E | validated | |
| UMLS | C5816796 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:98096Autosomal recessive metabolic cerebellar ataxia
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:68373Peroxisomal disease
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PEX2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9717 | ENSG00000164751 | 170993 | 8q21.13 | peroxisomal biogenesis factor 2 | 21392394[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 21392394[PMID]_30237433[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/642965
- This record as JSON: /data/d/642965.json